Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.

Zhehui ChenHui DongYupeng LiuRuxuan HeJinqing SongYing JinMengqiu LiYi LiuXueqin LiuHui YanJianguang QiFang WangHuijie XiaoHong ZhengLulu KangDongxiao LiYao ZhangYanling Yang

Published in: Orphanet journal of rare diseases (2022)

Patients with late-onset cblC deficiency present with a wide variety of neuropsychiatric symptoms and other presentations, including multiple organ damage. As a result, cb1C deficiency can easily be misdiagnosed as other conditions. Metabolic and genetic studies are important for accurate diagnosis, and metabolic treatment with cobalamin, L-carnitine, and betaine appears to be beneficial.

Keyphrases

late onset
early onset
replacement therapy
oxidative stress
high resolution
genome wide
copy number
mass spectrometry
smoking cessation
physical activity
sleep quality
case control